(Q72005041)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8007586%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

title

Is there evidence for anticipation in autosomal-dominant polycystic kidney disease? (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8007586%20AND%20SRC:MED&resulttype=core&format=json

autosomal dominant polycystic kidney disease

22 October 2019

main subject

0 references

author name string

G M Fick

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8007586%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

A M Johnson

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8007586%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

P A Gabow

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8007586%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

language of work or name

English

0 references

publication date

1 April 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8007586%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8007586%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

volume

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8007586%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

page(s)

1153-1162

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8007586%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8007586%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ki.1994.153

22 October 2019

exact match

0 references

cites work

Anticipation in myotonic dystrophy: fact or fiction?

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Anticipation in Huntington's disease is inherited through the male line but may originate in the female

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Patterns of inheritance of the symptoms of Huntington's disease suggestive of an effect of genomic imprinting

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Further segregation analysis of the fragile X syndrome with special reference to transmitting males

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Early-onset dystrophia myotonica. Evidence supporting a maternal environmental factor

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Cloning of the essential myotonic dystrophy region and mapping of the putative defect

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Unstable DNA sequence in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Intrafamilial phenotypic expression of autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Epidemiology of adult polycystic kidney disease, Olmsted County, Minnesota: 1935-1980.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Autosomal dominant polycystic kidney disease: presentation, complications, and prognosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Polycystic kidney disease: prospective analysis of nonazotemic patients and family members

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Prognosis of adult onset polycystic kidney disease re-evaluated

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Congenital appearance of adult-type (autosomal dominant) polycystic kidney disease.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Prenatal diagnosis of genetically determined early manifestation of autosomal dominant polycystic kidney disease?

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Screening for polycystic kidney disease: importance of clinical presentation in the newborn

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Autosomal dominant polycystic kidney disease in children

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Infantile presentation of adult-type polycystic kidney disease in a large kindred

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Triplet repeat mutations in human disease

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Brief report: reverse mutation in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Dynamic mutations: a new class of mutations causing human disease

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

High prevalence of the fra(X) syndrome cannot be explained by a high mutation rate

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Evidence for linkage disequilibrium between D16S94 and the adult onset polycystic kidney disease (PKD1) gene

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Evidence of founder chromosomes in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Autosomal dominant polycystic kidney disease--more than a renal disease

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Cyst formation and growth in autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FKI.1994.153

7 January 2021

Identifiers

DOI

10.1038/KI.1994.153

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8007586%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference